Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002097 | HP:0002097 | Emphysema | 0 | ABCA3 CL E G H | 21 | 33 | OMIM:610921 | Surfactant metabolism dysfunction, pulmonary, 3 | | | | 147 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | HP:0040283 - Occasional | | | 89 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | | | | 1 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 1 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | BTNL2 CL E G H | 56244 | 1142 | OMIM:612387 | Sarcoidosis, susceptibility to, 2 | | | | 1 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | CARD10 CL E G H | 29775 | 16422 | OMIM:619632 | IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89 | | | | 5 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 38 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 1 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | CDT1 CL E G H | 81620 | 24576 | OMIM:613804 | Meier-Gorlin syndrome 4 | . | | | 50 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040283 - Occasional | | | 1371 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 10 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | DNASE1L3 CL E G H | 1776 | 2959 | ORPHA:36412 | Hypocomplementemic urticarial vasculitis | HP:0040283 - Occasional | | | 3 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | EFEMP2 CL E G H | 30008 | 3219 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040281 - Very frequent | | | 45 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | EFEMP2 CL E G H | 30008 | 3219 | OMIM:614437 | Cutis laxa, autosomal recessive, type IB | . | | | 45 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | HP:0040283 - Occasional | | | 172 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | ELN CL E G H | 2006 | 3327 | OMIM:123700 | Cutis laxa, autosomal dominant 1 | . | | | 172 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040283 - Occasional | | | 209 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040283 - Occasional | | | 137 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | . | | | | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | HP:0040283 - Occasional | | | 63 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040281 - Very frequent | | | 63 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:219100 | Cutis laxa, autosomal recessive, type IA | . | | | 63 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | HP:0040283 - Occasional | | | 1361 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | HP:0040280 - Obligate | | | 1361 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | FLCN CL E G H | 201163 | 27310 | ORPHA:122 | Birt-Hogg-Dubé syndrome | HP:0040281 - Very frequent | | | 332 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040282 - Frequent | | | 291 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | GLI1 CL E G H | 2735 | 4317 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | | | | 3 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 2 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | | | | 2 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 32 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 4 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | LTBP1 CL E G H | 4052 | 6714 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040281 - Very frequent | | | | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | LTBP4 CL E G H | 8425 | 6717 | OMIM:613177 | Cutis laxa, autosomal recessive, type IC | . | | | 92 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | . | | | 33 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 1 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618913 | FANCONI RENOTUBULAR SYNDROME 5; FRTS5 | | | | 39 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 7 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 11 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | | | | 544 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | PRKACB CL E G H | 5567 | 9381 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 10 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | RHOH CL E G H | 399 | 686 | OMIM:618307 | Epidermodysplasia verruciformis, susceptibility to, 4 | . | | | | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040283 - Occasional | | | 67 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040283 - Occasional | | | 61 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040283 - Occasional | | | 57 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:60 | Alpha-1-antitrypsin deficiency | HP:0040281 - Very frequent | | | 131 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | SERPINA1 CL E G H | 5265 | 8941 | OMIM:613490 | Alpha-1-Antitrypsin deficiency | | | | 131 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | | | | 60 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | SPINK5 CL E G H | 11005 | 15464 | ORPHA:634 | Netherton syndrome | HP:0040282 - Frequent | | | 100 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | TAP1 CL E G H | 6890 | 43 | OMIM:604571 | Bare lymphocyte syndrome, type I | . | | | 5 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | TAP2 CL E G H | 6891 | 44 | OMIM:604571 | Bare lymphocyte syndrome, type I | . | | | 17 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | TAPBP CL E G H | 6892 | 11566 | OMIM:604571 | Bare lymphocyte syndrome, type I | . | | | 3 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 32 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 12 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 1 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040282 - Frequent | | | 1090 | | |
HP:0002097 | HP:0002097 | Emphysema | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040282 - Frequent | | | 2738 | | |
HP:0002097 | HP:0032966 | Centrilobular emphysema | 1 | CL E G H | | | | | | | | | | |
HP:0002097 | HP:0033649 | Paraseptal emphysema | 1 | ABCA3 CL E G H | 21 | 33 | OMIM:610921 | Surfactant metabolism dysfunction, pulmonary, 3 | | | | 147 | | |
HP:0002097 | HP:0032447 | Pulmonary bleb | 1 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0002097 | HP:0032446 | Pulmonary bulla | 1 | CARD10 CL E G H | 29775 | 16422 | OMIM:619632 | IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89 | | | | 5 | | |
HP:0002097 | HP:0032446 | Pulmonary bulla | 1 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0002097 | HP:0032447 | Pulmonary bleb | 1 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0002097 | HP:0032447 | Pulmonary bleb | 1 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 544 | | |
HP:0002097 | HP:0032965 | Interstitial emphysema | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0002097 | HP:0032967 | Panacinar emphysema | 1 | SERPINA1 CL E G H | 5265 | 8941 | OMIM:613490 | Alpha-1-Antitrypsin deficiency | | | | 131 | | |
HP:0002097 | HP:0032447 | Pulmonary bleb | 1 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 60 | | |